Variant report

Variant	rs7944558
Chromosome Location	chr11:18887345-18887346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11024836	0.93[ASN][1000 genomes]
rs11024837	0.93[ASN][1000 genomes]
rs11024838	0.93[ASN][1000 genomes]
rs11024840	0.93[ASN][1000 genomes]
rs11024841	0.93[ASN][1000 genomes]
rs11529648	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12786014	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35382201	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36002518	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4268482	0.89[ASN][1000 genomes]
rs4335522	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4388869	0.89[AMR][1000 genomes]
rs4528305	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612780	0.95[ASN][1000 genomes]
rs4757721	0.89[AMR][1000 genomes]
rs58873671	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6483543	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6483544	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7108374	0.89[AMR][1000 genomes]
rs7111693	0.85[CEU][hapmap]
rs7120988	0.89[EUR][1000 genomes]
rs71486886	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2758257	chr11:18818729-19082068	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759806	chr11:18818729-19082068	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428250	chr11:18818729-19082068	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv430322	chr11:18880428-18957197	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv832080	chr11:18882048-18975514	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18881800-18899800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18886400-18888600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr11:18886600-18888600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:18886800-18887400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:18886800-18887800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:18886800-18888200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:18886800-18888600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr11:18887000-18887400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:18887000-18887600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr11:18887000-18888600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:18887200-18887600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:18887200-18887600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:18887200-18887600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:18887200-18887600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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